Article
A mouse model of episodic ataxia type-1.
Nature neuroscience - 1 Apr 2003
Herson Paco S, Virk Michael, Rustay Nathan R, Bond Chris T, Crabbe John C, Adelman John P, Maylie James
Abstract excerpt
Episodic ataxia type-1 (EA1) is a dominant human neurological disorder characterized by stress-induced attacks of ataxia. EA1 is caused by mutations in the voltage-gated potassium channel Kv1.1, and affected individuals are heterozygous. Here we introduced the V408A EA1 mutation into mice using homologous recombination. In contrast to Kv1.1 null mice, homozygous V408A/V408A mice died after embryonic day 3 (E3)....
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